Canonical Allele Identifier: CA6008259

Gene: SERPING1

Linked Data

• dbSNP Id: rs747299292
• ExAC: 11:57379455 AAG / A
• gnomAD v2: 11-57379455-AAG-A
• gnomAD v3: 11-57611982-AAG-A
• gnomAD v4: 11-57611982-AAG-A
• MyVariant Identifiers: chr11:g.57379456_57379457del (hg19) ; chr11:g.57611983_57611984del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611983_57611984del , CM000673.2:g.57611983_57611984del	GRCh38
NC_000011.9:g.57379456_57379457del , CM000673.1:g.57379456_57379457del	GRCh37
NC_000011.8:g.57136032_57136033del	NCBI36
NG_009625.1:g.19430_19431del , LRG_105:g.19430_19431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1249+47_1249+48del MANE Select	ENSP00000278407.4:n.1249+47_1249+48del
ENST00000528996.2:c.*146+47_*146+48del	ENSP00000431226.2:n.*146+47_*146+48del
ENST00000531605.2:c.*1025+47_*1025+48del	ENSP00000503752.1:n.*1025+47_*1025+48del
ENST00000619430.2:c.1045+47_1045+48del	ENSP00000478572.2:n.1045+47_1045+48del
ENST00000676670.1:c.1249+47_1249+48del	ENSP00000504807.1:n.1249+47_1249+48del
ENST00000676741.1:n.2331+47_2331+48del
ENST00000677624.1:c.*669+47_*669+48del	ENSP00000503979.1:n.*669+47_*669+48del
ENST00000677625.1:c.1195+47_1195+48del	ENSP00000502857.1:n.1195+47_1195+48del
ENST00000677856.1:n.1502+47_1502+48del
ENST00000677915.1:c.*146+47_*146+48del	ENSP00000503118.1:n.*146+47_*146+48del
ENST00000678533.1:c.*803+47_*803+48del	ENSP00000503873.1:n.*803+47_*803+48del
ENST00000678592.1:c.*189+47_*189+48del	ENSP00000504424.1:n.*189+47_*189+48del
ENST00000278407.8:c.1249+47_1249+48del	ENSP00000278407.4:n.1249+47_1249+48del
ENST00000340687.10:c.1138+47_1138+48del	ENSP00000341861.6:n.1138+47_1138+48del
ENST00000378323.8:c.1264+47_1264+48del	ENSP00000367574.4:n.1264+47_1264+48del
ENST00000378324.6:c.1093+47_1093+48del	ENSP00000367575.2:n.1093+47_1093+48del
ENST00000403558.1:c.1378+47_1378+48del	ENSP00000384420.1:n.1378+47_1378+48del
ENST00000528996.1:c.450+47_450+48del	ENSP00000431226.1:n.450+47_450+48del
ENST00000530113.1:n.706+47_706+48del
ENST00000531133.5:c.750+47_750+48del	ENSP00000435431.1:n.750+47_750+48del
ENST00000531797.5:c.*274+47_*274+48del	ENSP00000432554.1:n.*274+47_*274+48del
ENST00000619430.1:c.380+47_380+48del	ENSP00000478572.1:n.380+47_380+48del
NM_000062.2:c.1249+47_1249+48del , LRG_105t1:c.1249+47_1249+48del	NP_000053.2:n.1249+47_1249+48del
NM_001032295.1:c.1249+47_1249+48del	NP_001027466.1:n.1249+47_1249+48del
NM_000062.3:c.1249+47_1249+48del MANE Select	NP_000053.2:n.1249+47_1249+48del
NM_001032295.2:c.1249+47_1249+48del	NP_001027466.1:n.1249+47_1249+48del